Cover Image

A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case

Abstract Background Hereditary hearing loss (HHL) is a common heterogeneous disorder affecting all ages, ethnicities, and genders. The most common form of HHL is autosomal recessive non-syndromic hearing loss (ARNSHL), in which there is no genotype-phenotype correlation in the majority of cases. Thi...

Full description

Saved in:

Bibliographic Details
Main Authors:	Tohid Ghasemnejad (Author), Mahmoud Shekari Khaniani (Author), Jafar Nouri Nojadeh (Author), Sima Mansoori Derakhshan (Author)
Format:	Book
Published:	BMC, 2022-02-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Evaluation of Association Between HLA Class II DR4-DQ8 Haplotype and Type I Diabetes Mellitus in Children of East Azerbaijan State of Iran
by: Nasrin Sohrabi, et al.
Published: (2015)

Construction of pPIC9 Recombinant Vector Containing Human Stem Cell Factor
by: Behrooz Farhadi, et al.
Published: (2013)

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
by: Amjad Khan, et al.
Published: (2019)

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
by: Amjad Khan, et al.
Published: (2019)

Construction of Yeast Recombinant Expression Vector Containing Human Epidermal Growth Factor (hEGF)
by: Jamal Mohammadian, et al.
Published: (2013)

Cloning of Soluble Human Stem Cell Factor in pET-26b(+) Vector
by: Salman Asghari, et al.
Published: (2014)

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family
by: Akram Sarmadi, et al.
Published: (2020)

Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations
by: Moustafa Abdelaal Hegazi, et al.
Published: (2017)

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex
by: Wei-Ting Tu, et al.
Published: (2020)

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss
by: Jing Zhang, et al.
Published: (2019)

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss
by: Kaifeng Zheng, et al.
Published: (2024)

A Novel Variant of Autosomal Recessive Lower Motor Neuron Disease
by: J Gordon Millichap
Published: (2006)

Decoding of novel missense TSC2 gene variants using in-silico methods
by: Shruthi Sudarshan, et al.
Published: (2019)

Screening of Autosomal Recessive Non-Syndromic Hearing Loss gor GJB2 Mutations
by: Atefeh Khosh-Aeen, et al.
Published: (2004)

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
by: Muhammad Ilyas, et al.
Published: (2020)

Haplotype Analysis of Seven Non-Syndromeic Autosomal Recessive Hearing Loss Loci in Iranian Families
by: Ramak Badr, et al.
Published: (2010)

Differential Expression Pattern of Epithelial Mesenchymal Transition Gens: AXL, GAS6, Claudin-1, and Cofilin-1, in Different Stages of Epithelial Ovarian Cancer
by: Elham HASSANI, et al.
Published: (2019)

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE
by: Anja Fon Gabršček, et al.
Published: (2022)

Autosomal Recessive Polycystic Kidney Disease
by: Sajad Ahmad Salati
Published: (2014)

Clinical Phenotypes of Autosomal Recessive Ataxias
by: J Gordon Millichap
Published: (2007)

Report of an autosomal recessive epidermolytic ichthyosis
by: K S Chandan, et al.
Published: (2020)

Educational Case: Autosomal Recessive Inheritance
by: D. Yitzchak Goldstein MD, et al.
Published: (2017)

Autosomal recessive osteopetrosis: mechanisms and treatments
by: Sara Penna, et al.
Published: (2021)

Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss
by: MA Tabatabaiefar, et al.
Published: (2011)

Autosomal Recessive and Sporadic Non Syndromic Hearing Loss and the Incidence of Cx26 Mutations in a Province of Iran
by: M Hashemzadeh Chaleshtori, et al.
Published: (2006)

Autosomal Recessive and Sporadic Non Syndromic Hearing Loss and the Incidence of Cx26 Mutations in a Province of Iran
by: M Hashemzadeh Chaleshtori, et al.
Published: (2006)

Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss
by: MA Tabatabaiefar, et al.
Published: (2011)

Screening of Myo7A Mutations in Iranian Patients with Autosomal Recessive Hearing Loss from West of Iran
by: Samira ASGHARZADE, et al.
Published: (2017)

Linkage Analysis for 50 Iranian Families with Autosomal Recessive Non-Syndromic Hearing Loss for DFNB21 Locus
by: Parisa Imani-Raad, et al.
Published: (2006)

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics
by: Corinna Ernst, et al.
Published: (2018)

Interpretation of Autosomal Recessive Kidney Diseases With "Presumed Homozygous" Pathogenic Variants Should Consider Technical Pitfalls
by: Haiyue Deng, et al.
Published: (2020)

The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis
by: Poulami Majumder, et al.
Published: (2013)

Autosomal-Recessive Hyper-IgE syndrome
by: Mohapatra Liza, et al.
Published: (2018)

Identification of Novel TMC1 Compound Heterozygous Mutations Related to Autosomal Recessive Hearing Loss by Targeted Capture Sequencing
by: Xue Gao, et al.
Published: (2016)

MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population
by: Lang Zhang, et al.
Published: (2024)

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A
by: Jin-Yuan Yang, et al.
Published: (2022)

Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais
by: Wanna Chetruengchai, et al.
Published: (2024)

Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile
by: Panpan Ye, et al.
Published: (2020)

Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2
by: Erdal Eren, et al.
Published: (2023)

Educational Case: Autosomal Recessive Polycystic Kidney Disease
by: Ashley S. Hafer MPA, et al.
Published: (2017)